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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

R. Olaso

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Open access Aug 2026

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

It is concluded that rare coding CNVs in a proportion of AD-associated genes and 22q11.21 duplication as a strong AD-risk-decreasing factor increase AD risk and Conversely, 22q11.21 duplication as a strong AD-risk-decreasing factor is identified.

O. Quenez, Catherine Schramm, K. Cassinari et al. · 1 citation
Open access Aug 2026

EXTL3 dysfunction identified as a driver of aberrant bone development in severe familial ankylosing spondylitis.

This study identifies EXTL3 as a genetic modifier of structural severity in AS and reveals a previously unrecognised role for HS metabolism in pathological ossification, which supports a model in which HLA-B27 primarily confers disease susceptibility, whereas rare variants such as EXTL3 contribute to structural progres...

S. Hilliquin, Olivier Fogel, Mathilde Tissier et al. · 0 citations

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